RIT1, Ras like without CAAX 1, 6016

N. diseases: 184; N. variants: 18
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8 		disease Disease or Syndrome 2 12 0.900 None 1.000 18 12 1987 2019
CUI: C0239340
Disease: Edema of lower extremity
Edema of lower extremity 		phenotype Pathological Conditions, Signs and Symptoms Finding 2 2 0.100 None 0 1
CUI: C0240278
Disease: Lymphatic obstruction
Lymphatic obstruction 		phenotype Hemic and Lymphatic Diseases Pathologic Function 2 2 0.100 None 0 1
CUI: C4025759
Disease: Abnormal mitral valve morphology
Abnormal mitral valve morphology 		disease Anatomical Abnormality 5 2 0.100 None 0 2
CUI: C4073145
Disease: Hyperkeratosis pilaris
Hyperkeratosis pilaris 		disease Disease or Syndrome 5 3 0.100 None 0 1
CUI: C1285291
Disease: Fetal ascites
Fetal ascites 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 6 2 0.100 None 0 1
CUI: C1856714
Disease: Palmoplantar cutis laxa
Palmoplantar cutis laxa 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Finding 6 0.100 None 0
CUI: C0347915
Disease: Congenital malformation syndromes associated with short stature
Congenital malformation syndromes associated with short stature 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 9 0.200 None 1.000 1 2019 2019
CUI: C4025753
Disease: Abnormal tricuspid valve morphology
Abnormal tricuspid valve morphology 		disease Anatomical Abnormality 11 1 0.100 None 0 1
CUI: C0175691
Disease: Dubowitz syndrome
Dubowitz syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 12 0.200 None 1.000 1 2019 2019
CUI: C4023385
Disease: Aplasia of the semicircular canal
Aplasia of the semicircular canal 		disease Anatomical Abnormality 16 1 0.100 None 0
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 19 3 0.300 0
CUI: C0265205
Disease: Robinow Syndrome
Robinow Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 20 3 0.200 None 1.000 1 2019 2019
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function 		phenotype Finding 21 2 0.100 None 0
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		phenotype Finding 22 27 0.100 None 0 1
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 22 4 0.300 0
CUI: C0008733
Disease: Chylothorax
Chylothorax 		disease Respiratory Tract Diseases Disease or Syndrome 23 2 0.100 None 0 2
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 23 83 0.100 None 0 6
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		phenotype Finding 24 7 0.100 None 0
CUI: C4020962
Disease: Enlarged thorax
Enlarged thorax 		phenotype Finding 25 4 0.100 None 0
CUI: C4025749
Disease: Abnormality of the spleen
Abnormality of the spleen 		disease Anatomical Abnormality 26 1 0.100 None 0
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases Congenital Abnormality 28 82 0.300 0
CUI: C4025843
Disease: Abnormality of refraction
Abnormality of refraction 		disease Anatomical Abnormality 28 31 0.100 None 0 2
CUI: C4023397
Disease: Abnormal hair quantity
Abnormal hair quantity 		disease Anatomical Abnormality 29 0.100 None 0
CUI: C0398368
Disease: Lymphatic Abnormalities
Lymphatic Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Anatomical Abnormality 30 6 0.010 None 1.000 1 2016 2016